{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:02:29Z","timestamp":1791216149236,"version":"4.1.0"},"reference-count":33,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>In humans, steroidogenic factor 1 &lt;i&gt;(NR5A1\/SF-1)&lt;\/i&gt; mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals. We have previously reported extreme within-family variability in affected 46,XY patients. Even though low ovarian reserve with preserved fertility has been reported in females harboring &lt;i&gt;NR5A1&lt;\/i&gt; gene mutations, fertility has only been observed in one reported case in affected 46,XY individuals. A kindred with multiple affected members presenting gonadal dysgenesis was studied. Four 46,XY individuals presented severe hypospadias at birth, one of them associated with micropenis and cryptorchidism. The other 3 developed spontaneous male puberty, and 1 has fathered 5 children. Four 46,XX patients presented premature ovarian failure (one of them was not available for the study) or high follicle-stimulating hormone levels. Mutational analysis of the &lt;i&gt;NR5A1 &lt;\/i&gt;gene revealed a novel heterozygous mutation, c.938G\u2192A, predicted to cause a p.Arg313Hys amino acid change. A highly conserved amino acid of the ligand-binding domain of the mature protein is affected, predicting abnormal protein function. We confirm that preserved fertility can be observed in patients with a 46,XY disorder of sex development due to heterozygous mutations in the &lt;i&gt;NR5A1&lt;\/i&gt; gene.<\/jats:p>","DOI":"10.1159\/000338346","type":"journal-article","created":{"date-parts":[[2012,8,14]],"date-time":"2012-08-14T10:16:52Z","timestamp":1344939412000},"page":"119-126","source":"Crossref","is-referenced-by-count":37,"title":["Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the &lt;b&gt;&lt;i&gt;NR5A1\/SF-1 &lt;\/i&gt;&lt;\/b&gt;Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected 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